Canonical Allele Identifier: CA477369325

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963892T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093182T>C , CM000673.2:g.119093182T>C	GRCh38
NC_000011.9:g.118963892T>C , CM000673.1:g.118963892T>C	GRCh37
NC_000011.8:g.118469102T>C	NCBI36
NG_008093.1:g.13306T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.820T>C	ENSP00000509288.1:p.Leu274=
ENST00000691144.1:n.3200T>C
ENST00000691249.1:n.1809T>C
ENST00000442944.7:c.967T>C	ENSP00000392041.3:p.Leu323=
ENST00000640813.1:c.*222T>C	ENSP00000491061.1:n.*222T>C
ENST00000648026.1:c.879T>C	ENSP00000498044.1:n.879T>C
ENST00000648374.1:c.934T>C	ENSP00000497255.1:p.Leu312=
ENST00000650101.1:c.916T>C	ENSP00000496970.1:p.Leu306=
ENST00000650307.1:n.1811T>C
ENST00000652429.1:c.985T>C MANE Select	ENSP00000498786.1:p.Leu329=
ENST00000278715.7:c.985T>C	ENSP00000278715.3:p.Leu329=
ENST00000392841.1:c.934T>C	ENSP00000376584.1:p.Leu312=
ENST00000442944.6:c.934T>C	ENSP00000392041.2:p.Leu312=
ENST00000537841.5:c.934T>C	ENSP00000444730.1:p.Leu312=
ENST00000539045.1:n.484T>C
ENST00000542044.5:n.1430T>C
ENST00000542729.5:c.814T>C	ENSP00000443058.1:p.Leu272=
ENST00000543090.5:c.892T>C	ENSP00000445429.1:p.Leu298=
ENST00000543543.5:n.1460T>C
ENST00000544182.1:n.1434T>C
ENST00000544387.5:c.865T>C	ENSP00000438424.1:p.Leu289=
ENST00000546226.5:n.1747T>C
NM_000190.3:c.985T>C	NP_000181.2:p.Leu329=
NM_001024382.1:c.934T>C	NP_001019553.1:p.Leu312=
NM_001258208.1:c.865T>C	NP_001245137.1:p.Leu289=
NM_001258209.1:c.814T>C	NP_001245138.1:p.Leu272=
XM_005271531.1:c.934T>C	XP_005271588.1:p.Leu312=
XM_005271532.1:c.934T>C	XP_005271589.1:p.Leu312=
XM_005271533.2:c.931T>C	XP_005271590.1:p.Leu311=
XM_011542796.1:c.820T>C	XP_011541098.1:p.Leu274=
NM_000190.4:c.985T>C MANE Select	NP_000181.2:p.Leu329=
NM_001024382.2:c.934T>C	NP_001019553.1:p.Leu312=
XM_005271533.3:c.931T>C	XP_005271590.1:p.Leu311=
XM_017017629.1:c.934T>C	XP_016873118.1:p.Leu312=
XM_024448460.1:c.811T>C	XP_024304228.1:p.Leu271=
NM_001258208.2:c.865T>C	NP_001245137.1:p.Leu289=
NM_001258209.2:c.814T>C	NP_001245138.1:p.Leu272=